Rare Disease Library

Hip dysplasia, Beukes type

BFHD · Beukes familial hip dysplasia

Behr syndrome

Behr complicated familial optic atrophy

Blue rubber bleb nevus

Bean syndrome · BRBN

C syndrome

OTCS · Opitz C trigonocephaly

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Deafness-ear malformation-facial palsy syndrome

Sellars-Beighton syndrome · Hearing loss-ear malformation-facial palsy syndrome

Hidrotic ectodermal dysplasia

Clouston syndrome

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia